title: A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness.
authors.forename: Eric
authors.initials: E
authors.lastname: Lee
authors.forename: Nizar
authors.initials: N
authors.lastname: Chahin
mesh_terms: D002648:Child; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000209:etiology*; D009154:Mutation / Q000235:genetics*; D062553:NAV1.4 Voltage-Gated Sodium Channel / Q000235:genetics*; D012206:Rhabdomyolysis / Q000150:complications* / Q000235:genetics*
chemical_list: D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human